De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.
Identifieur interne : 001090 ( PubMed/Corpus ); précédent : 001089; suivant : 001091De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.
Auteurs : Christopher T. Gordon ; Shifeng Xue ; Gökhan Yigit ; Hicham Filali ; Kelan Chen ; Nadine Rosin ; Koh-Ichiro Yoshiura ; Myriam Oufadem ; Tamara J. Beck ; Ruth Mcgowan ; Alex C. Magee ; Janine Altmüller ; Camille Dion ; Holger Thiele ; Alexandra D. Gurzau ; Peter Nürnberg ; Dieter Meschede ; Wolfgang Mühlbauer ; Nobuhiko Okamoto ; Vinod Varghese ; Rachel Irving ; Sabine Sigaudy ; Denise Williams ; S Faisal Ahmed ; Carine Bonnard ; Mung Kei Kong ; Ilham Ratbi ; Nawfal Fejjal ; Meriem Fikri ; Siham Chafai Elalaoui ; Hallvard Reigstad ; Christine Bole-Feysot ; Patrick Nitschké ; Nicola Ragge ; Nicolas Lévy ; Gökhan Tunçbilek ; Audrey S M. Teo ; Michael L. Cunningham ; Abdelaziz Sefiani ; Hülya Kayserili ; James M. Murphy ; Chalermpong Chatdokmaiprai ; Axel M. Hillmer ; Duangrurdee Wattanasirichaigoon ; Stanislas Lyonnet ; Frédérique Magdinier ; Asif Javed ; Marnie E. Blewitt ; Jeanne Amiel ; Bernd Wollnik ; Bruno ReversadeSource :
- Nature genetics [ 1546-1718 ] ; 2017.
English descriptors
- KwdEn :
- Animals, Cell Line, Child, Preschool, Choanal Atresia (genetics), Chromosomal Proteins, Non-Histone (genetics), Epigenesis, Genetic (genetics), Female, Genetic Predisposition to Disease (genetics), Humans, Male, Mice, Mice, Inbred C57BL, Microphthalmos (genetics), Muscular Dystrophy, Facioscapulohumeral (genetics), Mutation, Missense (genetics), Nose (abnormalities), Xenopus laevis (genetics).
- MESH :
- chemical , genetics : Chromosomal Proteins, Non-Histone.
- abnormalities : Nose.
- genetics : Choanal Atresia, Epigenesis, Genetic, Genetic Predisposition to Disease, Microphthalmos, Muscular Dystrophy, Facioscapulohumeral, Mutation, Missense, Xenopus laevis.
- Animals, Cell Line, Child, Preschool, Female, Humans, Male, Mice, Mice, Inbred C57BL.
Abstract
Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete absence of the nose with or without ocular defects. We report here that missense mutations in the epigenetic regulator SMCHD1 mapping to the extended ATPase domain of the encoded protein cause BAMS in all 14 cases studied. All mutations were de novo where parental DNA was available. Biochemical tests and in vivo assays in Xenopus laevis embryos suggest that these mutations may behave as gain-of-function alleles. This finding is in contrast to the loss-of-function mutations in SMCHD1 that have been associated with facioscapulohumeral muscular dystrophy (FSHD) type 2. Our results establish SMCHD1 as a key player in nasal development and provide biochemical insight into its enzymatic function that may be exploited for development of therapeutics for FSHD.
DOI: 10.1038/ng.3765
PubMed: 28067911
Links to Exploration step
pubmed:28067911Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.</title><author><name sortKey="Gordon, Christopher T" sort="Gordon, Christopher T" uniqKey="Gordon C" first="Christopher T" last="Gordon">Christopher T. Gordon</name><affiliation><nlm:affiliation>Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Xue, Shifeng" sort="Xue, Shifeng" uniqKey="Xue S" first="Shifeng" last="Xue">Shifeng Xue</name><affiliation><nlm:affiliation>Human Genetics and Embryology Laboratory, Institute of Medical Biology, A*STAR, Singapore.</nlm:affiliation></affiliation></author><author><name sortKey="Yigit, Gokhan" sort="Yigit, Gokhan" uniqKey="Yigit G" first="Gökhan" last="Yigit">Gökhan Yigit</name><affiliation><nlm:affiliation>Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Filali, Hicham" sort="Filali, Hicham" uniqKey="Filali H" first="Hicham" last="Filali">Hicham Filali</name><affiliation><nlm:affiliation>Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Chen, Kelan" sort="Chen, Kelan" uniqKey="Chen K" first="Kelan" last="Chen">Kelan Chen</name><affiliation><nlm:affiliation>Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Rosin, Nadine" sort="Rosin, Nadine" uniqKey="Rosin N" first="Nadine" last="Rosin">Nadine Rosin</name><affiliation><nlm:affiliation>Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Yoshiura, Koh Ichiro" sort="Yoshiura, Koh Ichiro" uniqKey="Yoshiura K" first="Koh-Ichiro" last="Yoshiura">Koh-Ichiro Yoshiura</name><affiliation><nlm:affiliation>Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.</nlm:affiliation></affiliation></author><author><name sortKey="Oufadem, Myriam" sort="Oufadem, Myriam" uniqKey="Oufadem M" first="Myriam" last="Oufadem">Myriam Oufadem</name><affiliation><nlm:affiliation>Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Beck, Tamara J" sort="Beck, Tamara J" uniqKey="Beck T" first="Tamara J" last="Beck">Tamara J. Beck</name><affiliation><nlm:affiliation>Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Mcgowan, Ruth" sort="Mcgowan, Ruth" uniqKey="Mcgowan R" first="Ruth" last="Mcgowan">Ruth Mcgowan</name><affiliation><nlm:affiliation>West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Magee, Alex C" sort="Magee, Alex C" uniqKey="Magee A" first="Alex C" last="Magee">Alex C. Magee</name><affiliation><nlm:affiliation>Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Altmuller, Janine" sort="Altmuller, Janine" uniqKey="Altmuller J" first="Janine" last="Altmüller">Janine Altmüller</name><affiliation><nlm:affiliation>Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Dion, Camille" sort="Dion, Camille" uniqKey="Dion C" first="Camille" last="Dion">Camille Dion</name><affiliation><nlm:affiliation>Aix Marseille Université, INSERM, Génétique Médicale et Génomique Fonctionnelle (GMGF), UMRS 910, Marseille, France.</nlm:affiliation></affiliation></author><author><name sortKey="Thiele, Holger" sort="Thiele, Holger" uniqKey="Thiele H" first="Holger" last="Thiele">Holger Thiele</name><affiliation><nlm:affiliation>Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Gurzau, Alexandra D" sort="Gurzau, Alexandra D" uniqKey="Gurzau A" first="Alexandra D" last="Gurzau">Alexandra D. Gurzau</name><affiliation><nlm:affiliation>Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Nurnberg, Peter" sort="Nurnberg, Peter" uniqKey="Nurnberg P" first="Peter" last="Nürnberg">Peter Nürnberg</name><affiliation><nlm:affiliation>Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Meschede, Dieter" sort="Meschede, Dieter" uniqKey="Meschede D" first="Dieter" last="Meschede">Dieter Meschede</name><affiliation><nlm:affiliation>Praxis für Humangenetik, Cologne, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Muhlbauer, Wolfgang" sort="Muhlbauer, Wolfgang" uniqKey="Muhlbauer W" first="Wolfgang" last="Mühlbauer">Wolfgang Mühlbauer</name><affiliation><nlm:affiliation>Plastische und Ästhetische Chirurgie, ATOS Klinik München, Munich, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Okamoto, Nobuhiko" sort="Okamoto, Nobuhiko" uniqKey="Okamoto N" first="Nobuhiko" last="Okamoto">Nobuhiko Okamoto</name><affiliation><nlm:affiliation>Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Osaka, Japan.</nlm:affiliation></affiliation></author><author><name sortKey="Varghese, Vinod" sort="Varghese, Vinod" uniqKey="Varghese V" first="Vinod" last="Varghese">Vinod Varghese</name><affiliation><nlm:affiliation>Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Irving, Rachel" sort="Irving, Rachel" uniqKey="Irving R" first="Rachel" last="Irving">Rachel Irving</name><affiliation><nlm:affiliation>Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Sigaudy, Sabine" sort="Sigaudy, Sabine" uniqKey="Sigaudy S" first="Sabine" last="Sigaudy">Sabine Sigaudy</name><affiliation><nlm:affiliation>Département de Génétique Médicale, Hôpital Timone Enfant, Assistance Publique-Hôpitaux de Marseille, Marseille, France.</nlm:affiliation></affiliation></author><author><name sortKey="Williams, Denise" sort="Williams, Denise" uniqKey="Williams D" first="Denise" last="Williams">Denise Williams</name><affiliation><nlm:affiliation>West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Ahmed, S Faisal" sort="Ahmed, S Faisal" uniqKey="Ahmed S" first="S Faisal" last="Ahmed">S Faisal Ahmed</name><affiliation><nlm:affiliation>Developmental Endocrinology Research Group, University of Glasgow, RHC, Glasgow, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Bonnard, Carine" sort="Bonnard, Carine" uniqKey="Bonnard C" first="Carine" last="Bonnard">Carine Bonnard</name><affiliation><nlm:affiliation>Human Genetics and Embryology Laboratory, Institute of Medical Biology, A*STAR, Singapore.</nlm:affiliation></affiliation></author><author><name sortKey="Kong, Mung Kei" sort="Kong, Mung Kei" uniqKey="Kong M" first="Mung Kei" last="Kong">Mung Kei Kong</name><affiliation><nlm:affiliation>Human Genetics and Embryology Laboratory, Institute of Medical Biology, A*STAR, Singapore.</nlm:affiliation></affiliation></author><author><name sortKey="Ratbi, Ilham" sort="Ratbi, Ilham" uniqKey="Ratbi I" first="Ilham" last="Ratbi">Ilham Ratbi</name><affiliation><nlm:affiliation>Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Mohammed V University, Rabat, Morocco.</nlm:affiliation></affiliation></author><author><name sortKey="Fejjal, Nawfal" sort="Fejjal, Nawfal" uniqKey="Fejjal N" first="Nawfal" last="Fejjal">Nawfal Fejjal</name><affiliation><nlm:affiliation>Service de Chirurgie Plastique Pédiatrique, Hôpital d'Enfants, CHU Ibn Sina, Mohammed V University, Rabat, Morocco.</nlm:affiliation></affiliation></author><author><name sortKey="Fikri, Meriem" sort="Fikri, Meriem" uniqKey="Fikri M" first="Meriem" last="Fikri">Meriem Fikri</name><affiliation><nlm:affiliation>Service de Neuroradiologie, Hôpital des Spécialités, CHU Ibn Sina, Mohammed V University, Rabat, Morocco.</nlm:affiliation></affiliation></author><author><name sortKey="Elalaoui, Siham Chafai" sort="Elalaoui, Siham Chafai" uniqKey="Elalaoui S" first="Siham Chafai" last="Elalaoui">Siham Chafai Elalaoui</name><affiliation><nlm:affiliation>Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Mohammed V University, Rabat, Morocco.</nlm:affiliation></affiliation></author><author><name sortKey="Reigstad, Hallvard" sort="Reigstad, Hallvard" uniqKey="Reigstad H" first="Hallvard" last="Reigstad">Hallvard Reigstad</name><affiliation><nlm:affiliation>Neonatal Intensive Care Unit, Children's Department, Haukeland University Hospital, Bergen, Norway.</nlm:affiliation></affiliation></author><author><name sortKey="Bole Feysot, Christine" sort="Bole Feysot, Christine" uniqKey="Bole Feysot C" first="Christine" last="Bole-Feysot">Christine Bole-Feysot</name><affiliation><nlm:affiliation>Paris Descartes, Sorbonne Paris Cité Université, Institut Imagine, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Nitschke, Patrick" sort="Nitschke, Patrick" uniqKey="Nitschke P" first="Patrick" last="Nitschké">Patrick Nitschké</name><affiliation><nlm:affiliation>Paris Descartes, Sorbonne Paris Cité Université, Institut Imagine, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Ragge, Nicola" sort="Ragge, Nicola" uniqKey="Ragge N" first="Nicola" last="Ragge">Nicola Ragge</name><affiliation><nlm:affiliation>West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Levy, Nicolas" sort="Levy, Nicolas" uniqKey="Levy N" first="Nicolas" last="Lévy">Nicolas Lévy</name><affiliation><nlm:affiliation>Aix Marseille Université, INSERM, Génétique Médicale et Génomique Fonctionnelle (GMGF), UMRS 910, Marseille, France.</nlm:affiliation></affiliation></author><author><name sortKey="Tuncbilek, Gokhan" sort="Tuncbilek, Gokhan" uniqKey="Tuncbilek G" first="Gökhan" last="Tunçbilek">Gökhan Tunçbilek</name><affiliation><nlm:affiliation>Department of Plastic, Reconstructive and Aesthetic Surgery, Hacettepe University Faculty of Medicine, Ankara, Turkey.</nlm:affiliation></affiliation></author><author><name sortKey="Teo, Audrey S M" sort="Teo, Audrey S M" uniqKey="Teo A" first="Audrey S M" last="Teo">Audrey S M. Teo</name><affiliation><nlm:affiliation>Cancer Therapeutics and Stratified Oncology, Genome Institute of Singapore, A*STAR, Singapore.</nlm:affiliation></affiliation></author><author><name sortKey="Cunningham, Michael L" sort="Cunningham, Michael L" uniqKey="Cunningham M" first="Michael L" last="Cunningham">Michael L. Cunningham</name><affiliation><nlm:affiliation>University of Washington Department of Pediatrics, Division of Craniofacial Medicine and Seattle Children's Hospital Craniofacial Center, Seattle, Washington, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Sefiani, Abdelaziz" sort="Sefiani, Abdelaziz" uniqKey="Sefiani A" first="Abdelaziz" last="Sefiani">Abdelaziz Sefiani</name><affiliation><nlm:affiliation>Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Mohammed V University, Rabat, Morocco.</nlm:affiliation></affiliation></author><author><name sortKey="Kayserili, Hulya" sort="Kayserili, Hulya" uniqKey="Kayserili H" first="Hülya" last="Kayserili">Hülya Kayserili</name><affiliation><nlm:affiliation>Department of Medical Genetics, Koç University, School of Medicine (KUSoM), Istanbul, Turkey.</nlm:affiliation></affiliation></author><author><name sortKey="Murphy, James M" sort="Murphy, James M" uniqKey="Murphy J" first="James M" last="Murphy">James M. Murphy</name><affiliation><nlm:affiliation>Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Chatdokmaiprai, Chalermpong" sort="Chatdokmaiprai, Chalermpong" uniqKey="Chatdokmaiprai C" first="Chalermpong" last="Chatdokmaiprai">Chalermpong Chatdokmaiprai</name><affiliation><nlm:affiliation>Plastic and Maxillofacial Surgery, Department of Surgery, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.</nlm:affiliation></affiliation></author><author><name sortKey="Hillmer, Axel M" sort="Hillmer, Axel M" uniqKey="Hillmer A" first="Axel M" last="Hillmer">Axel M. Hillmer</name><affiliation><nlm:affiliation>Cancer Therapeutics and Stratified Oncology, Genome Institute of Singapore, A*STAR, Singapore.</nlm:affiliation></affiliation></author><author><name sortKey="Wattanasirichaigoon, Duangrurdee" sort="Wattanasirichaigoon, Duangrurdee" uniqKey="Wattanasirichaigoon D" first="Duangrurdee" last="Wattanasirichaigoon">Duangrurdee Wattanasirichaigoon</name><affiliation><nlm:affiliation>Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.</nlm:affiliation></affiliation></author><author><name sortKey="Lyonnet, Stanislas" sort="Lyonnet, Stanislas" uniqKey="Lyonnet S" first="Stanislas" last="Lyonnet">Stanislas Lyonnet</name><affiliation><nlm:affiliation>Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Magdinier, Frederique" sort="Magdinier, Frederique" uniqKey="Magdinier F" first="Frédérique" last="Magdinier">Frédérique Magdinier</name><affiliation><nlm:affiliation>Aix Marseille Université, INSERM, Génétique Médicale et Génomique Fonctionnelle (GMGF), UMRS 910, Marseille, France.</nlm:affiliation></affiliation></author><author><name sortKey="Javed, Asif" sort="Javed, Asif" uniqKey="Javed A" first="Asif" last="Javed">Asif Javed</name><affiliation><nlm:affiliation>Cancer Therapeutics and Stratified Oncology, Genome Institute of Singapore, A*STAR, Singapore.</nlm:affiliation></affiliation></author><author><name sortKey="Blewitt, Marnie E" sort="Blewitt, Marnie E" uniqKey="Blewitt M" first="Marnie E" last="Blewitt">Marnie E. Blewitt</name><affiliation><nlm:affiliation>Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Amiel, Jeanne" sort="Amiel, Jeanne" uniqKey="Amiel J" first="Jeanne" last="Amiel">Jeanne Amiel</name><affiliation><nlm:affiliation>Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Wollnik, Bernd" sort="Wollnik, Bernd" uniqKey="Wollnik B" first="Bernd" last="Wollnik">Bernd Wollnik</name><affiliation><nlm:affiliation>Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Reversade, Bruno" sort="Reversade, Bruno" uniqKey="Reversade B" first="Bruno" last="Reversade">Bruno Reversade</name><affiliation><nlm:affiliation>Human Genetics and Embryology Laboratory, Institute of Medical Biology, A*STAR, Singapore.</nlm:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2017">2017</date><idno type="RBID">pubmed:28067911</idno><idno type="pmid">28067911</idno><idno type="doi">10.1038/ng.3765</idno><idno type="wicri:Area/PubMed/Corpus">001090</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001090</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.</title><author><name sortKey="Gordon, Christopher T" sort="Gordon, Christopher T" uniqKey="Gordon C" first="Christopher T" last="Gordon">Christopher T. Gordon</name><affiliation><nlm:affiliation>Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Xue, Shifeng" sort="Xue, Shifeng" uniqKey="Xue S" first="Shifeng" last="Xue">Shifeng Xue</name><affiliation><nlm:affiliation>Human Genetics and Embryology Laboratory, Institute of Medical Biology, A*STAR, Singapore.</nlm:affiliation></affiliation></author><author><name sortKey="Yigit, Gokhan" sort="Yigit, Gokhan" uniqKey="Yigit G" first="Gökhan" last="Yigit">Gökhan Yigit</name><affiliation><nlm:affiliation>Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Filali, Hicham" sort="Filali, Hicham" uniqKey="Filali H" first="Hicham" last="Filali">Hicham Filali</name><affiliation><nlm:affiliation>Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Chen, Kelan" sort="Chen, Kelan" uniqKey="Chen K" first="Kelan" last="Chen">Kelan Chen</name><affiliation><nlm:affiliation>Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Rosin, Nadine" sort="Rosin, Nadine" uniqKey="Rosin N" first="Nadine" last="Rosin">Nadine Rosin</name><affiliation><nlm:affiliation>Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Yoshiura, Koh Ichiro" sort="Yoshiura, Koh Ichiro" uniqKey="Yoshiura K" first="Koh-Ichiro" last="Yoshiura">Koh-Ichiro Yoshiura</name><affiliation><nlm:affiliation>Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.</nlm:affiliation></affiliation></author><author><name sortKey="Oufadem, Myriam" sort="Oufadem, Myriam" uniqKey="Oufadem M" first="Myriam" last="Oufadem">Myriam Oufadem</name><affiliation><nlm:affiliation>Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Beck, Tamara J" sort="Beck, Tamara J" uniqKey="Beck T" first="Tamara J" last="Beck">Tamara J. Beck</name><affiliation><nlm:affiliation>Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Mcgowan, Ruth" sort="Mcgowan, Ruth" uniqKey="Mcgowan R" first="Ruth" last="Mcgowan">Ruth Mcgowan</name><affiliation><nlm:affiliation>West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Magee, Alex C" sort="Magee, Alex C" uniqKey="Magee A" first="Alex C" last="Magee">Alex C. Magee</name><affiliation><nlm:affiliation>Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Altmuller, Janine" sort="Altmuller, Janine" uniqKey="Altmuller J" first="Janine" last="Altmüller">Janine Altmüller</name><affiliation><nlm:affiliation>Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Dion, Camille" sort="Dion, Camille" uniqKey="Dion C" first="Camille" last="Dion">Camille Dion</name><affiliation><nlm:affiliation>Aix Marseille Université, INSERM, Génétique Médicale et Génomique Fonctionnelle (GMGF), UMRS 910, Marseille, France.</nlm:affiliation></affiliation></author><author><name sortKey="Thiele, Holger" sort="Thiele, Holger" uniqKey="Thiele H" first="Holger" last="Thiele">Holger Thiele</name><affiliation><nlm:affiliation>Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Gurzau, Alexandra D" sort="Gurzau, Alexandra D" uniqKey="Gurzau A" first="Alexandra D" last="Gurzau">Alexandra D. Gurzau</name><affiliation><nlm:affiliation>Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Nurnberg, Peter" sort="Nurnberg, Peter" uniqKey="Nurnberg P" first="Peter" last="Nürnberg">Peter Nürnberg</name><affiliation><nlm:affiliation>Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Meschede, Dieter" sort="Meschede, Dieter" uniqKey="Meschede D" first="Dieter" last="Meschede">Dieter Meschede</name><affiliation><nlm:affiliation>Praxis für Humangenetik, Cologne, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Muhlbauer, Wolfgang" sort="Muhlbauer, Wolfgang" uniqKey="Muhlbauer W" first="Wolfgang" last="Mühlbauer">Wolfgang Mühlbauer</name><affiliation><nlm:affiliation>Plastische und Ästhetische Chirurgie, ATOS Klinik München, Munich, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Okamoto, Nobuhiko" sort="Okamoto, Nobuhiko" uniqKey="Okamoto N" first="Nobuhiko" last="Okamoto">Nobuhiko Okamoto</name><affiliation><nlm:affiliation>Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Osaka, Japan.</nlm:affiliation></affiliation></author><author><name sortKey="Varghese, Vinod" sort="Varghese, Vinod" uniqKey="Varghese V" first="Vinod" last="Varghese">Vinod Varghese</name><affiliation><nlm:affiliation>Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Irving, Rachel" sort="Irving, Rachel" uniqKey="Irving R" first="Rachel" last="Irving">Rachel Irving</name><affiliation><nlm:affiliation>Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Sigaudy, Sabine" sort="Sigaudy, Sabine" uniqKey="Sigaudy S" first="Sabine" last="Sigaudy">Sabine Sigaudy</name><affiliation><nlm:affiliation>Département de Génétique Médicale, Hôpital Timone Enfant, Assistance Publique-Hôpitaux de Marseille, Marseille, France.</nlm:affiliation></affiliation></author><author><name sortKey="Williams, Denise" sort="Williams, Denise" uniqKey="Williams D" first="Denise" last="Williams">Denise Williams</name><affiliation><nlm:affiliation>West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Ahmed, S Faisal" sort="Ahmed, S Faisal" uniqKey="Ahmed S" first="S Faisal" last="Ahmed">S Faisal Ahmed</name><affiliation><nlm:affiliation>Developmental Endocrinology Research Group, University of Glasgow, RHC, Glasgow, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Bonnard, Carine" sort="Bonnard, Carine" uniqKey="Bonnard C" first="Carine" last="Bonnard">Carine Bonnard</name><affiliation><nlm:affiliation>Human Genetics and Embryology Laboratory, Institute of Medical Biology, A*STAR, Singapore.</nlm:affiliation></affiliation></author><author><name sortKey="Kong, Mung Kei" sort="Kong, Mung Kei" uniqKey="Kong M" first="Mung Kei" last="Kong">Mung Kei Kong</name><affiliation><nlm:affiliation>Human Genetics and Embryology Laboratory, Institute of Medical Biology, A*STAR, Singapore.</nlm:affiliation></affiliation></author><author><name sortKey="Ratbi, Ilham" sort="Ratbi, Ilham" uniqKey="Ratbi I" first="Ilham" last="Ratbi">Ilham Ratbi</name><affiliation><nlm:affiliation>Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Mohammed V University, Rabat, Morocco.</nlm:affiliation></affiliation></author><author><name sortKey="Fejjal, Nawfal" sort="Fejjal, Nawfal" uniqKey="Fejjal N" first="Nawfal" last="Fejjal">Nawfal Fejjal</name><affiliation><nlm:affiliation>Service de Chirurgie Plastique Pédiatrique, Hôpital d'Enfants, CHU Ibn Sina, Mohammed V University, Rabat, Morocco.</nlm:affiliation></affiliation></author><author><name sortKey="Fikri, Meriem" sort="Fikri, Meriem" uniqKey="Fikri M" first="Meriem" last="Fikri">Meriem Fikri</name><affiliation><nlm:affiliation>Service de Neuroradiologie, Hôpital des Spécialités, CHU Ibn Sina, Mohammed V University, Rabat, Morocco.</nlm:affiliation></affiliation></author><author><name sortKey="Elalaoui, Siham Chafai" sort="Elalaoui, Siham Chafai" uniqKey="Elalaoui S" first="Siham Chafai" last="Elalaoui">Siham Chafai Elalaoui</name><affiliation><nlm:affiliation>Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Mohammed V University, Rabat, Morocco.</nlm:affiliation></affiliation></author><author><name sortKey="Reigstad, Hallvard" sort="Reigstad, Hallvard" uniqKey="Reigstad H" first="Hallvard" last="Reigstad">Hallvard Reigstad</name><affiliation><nlm:affiliation>Neonatal Intensive Care Unit, Children's Department, Haukeland University Hospital, Bergen, Norway.</nlm:affiliation></affiliation></author><author><name sortKey="Bole Feysot, Christine" sort="Bole Feysot, Christine" uniqKey="Bole Feysot C" first="Christine" last="Bole-Feysot">Christine Bole-Feysot</name><affiliation><nlm:affiliation>Paris Descartes, Sorbonne Paris Cité Université, Institut Imagine, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Nitschke, Patrick" sort="Nitschke, Patrick" uniqKey="Nitschke P" first="Patrick" last="Nitschké">Patrick Nitschké</name><affiliation><nlm:affiliation>Paris Descartes, Sorbonne Paris Cité Université, Institut Imagine, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Ragge, Nicola" sort="Ragge, Nicola" uniqKey="Ragge N" first="Nicola" last="Ragge">Nicola Ragge</name><affiliation><nlm:affiliation>West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Levy, Nicolas" sort="Levy, Nicolas" uniqKey="Levy N" first="Nicolas" last="Lévy">Nicolas Lévy</name><affiliation><nlm:affiliation>Aix Marseille Université, INSERM, Génétique Médicale et Génomique Fonctionnelle (GMGF), UMRS 910, Marseille, France.</nlm:affiliation></affiliation></author><author><name sortKey="Tuncbilek, Gokhan" sort="Tuncbilek, Gokhan" uniqKey="Tuncbilek G" first="Gökhan" last="Tunçbilek">Gökhan Tunçbilek</name><affiliation><nlm:affiliation>Department of Plastic, Reconstructive and Aesthetic Surgery, Hacettepe University Faculty of Medicine, Ankara, Turkey.</nlm:affiliation></affiliation></author><author><name sortKey="Teo, Audrey S M" sort="Teo, Audrey S M" uniqKey="Teo A" first="Audrey S M" last="Teo">Audrey S M. Teo</name><affiliation><nlm:affiliation>Cancer Therapeutics and Stratified Oncology, Genome Institute of Singapore, A*STAR, Singapore.</nlm:affiliation></affiliation></author><author><name sortKey="Cunningham, Michael L" sort="Cunningham, Michael L" uniqKey="Cunningham M" first="Michael L" last="Cunningham">Michael L. Cunningham</name><affiliation><nlm:affiliation>University of Washington Department of Pediatrics, Division of Craniofacial Medicine and Seattle Children's Hospital Craniofacial Center, Seattle, Washington, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Sefiani, Abdelaziz" sort="Sefiani, Abdelaziz" uniqKey="Sefiani A" first="Abdelaziz" last="Sefiani">Abdelaziz Sefiani</name><affiliation><nlm:affiliation>Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Mohammed V University, Rabat, Morocco.</nlm:affiliation></affiliation></author><author><name sortKey="Kayserili, Hulya" sort="Kayserili, Hulya" uniqKey="Kayserili H" first="Hülya" last="Kayserili">Hülya Kayserili</name><affiliation><nlm:affiliation>Department of Medical Genetics, Koç University, School of Medicine (KUSoM), Istanbul, Turkey.</nlm:affiliation></affiliation></author><author><name sortKey="Murphy, James M" sort="Murphy, James M" uniqKey="Murphy J" first="James M" last="Murphy">James M. Murphy</name><affiliation><nlm:affiliation>Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Chatdokmaiprai, Chalermpong" sort="Chatdokmaiprai, Chalermpong" uniqKey="Chatdokmaiprai C" first="Chalermpong" last="Chatdokmaiprai">Chalermpong Chatdokmaiprai</name><affiliation><nlm:affiliation>Plastic and Maxillofacial Surgery, Department of Surgery, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.</nlm:affiliation></affiliation></author><author><name sortKey="Hillmer, Axel M" sort="Hillmer, Axel M" uniqKey="Hillmer A" first="Axel M" last="Hillmer">Axel M. Hillmer</name><affiliation><nlm:affiliation>Cancer Therapeutics and Stratified Oncology, Genome Institute of Singapore, A*STAR, Singapore.</nlm:affiliation></affiliation></author><author><name sortKey="Wattanasirichaigoon, Duangrurdee" sort="Wattanasirichaigoon, Duangrurdee" uniqKey="Wattanasirichaigoon D" first="Duangrurdee" last="Wattanasirichaigoon">Duangrurdee Wattanasirichaigoon</name><affiliation><nlm:affiliation>Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.</nlm:affiliation></affiliation></author><author><name sortKey="Lyonnet, Stanislas" sort="Lyonnet, Stanislas" uniqKey="Lyonnet S" first="Stanislas" last="Lyonnet">Stanislas Lyonnet</name><affiliation><nlm:affiliation>Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Magdinier, Frederique" sort="Magdinier, Frederique" uniqKey="Magdinier F" first="Frédérique" last="Magdinier">Frédérique Magdinier</name><affiliation><nlm:affiliation>Aix Marseille Université, INSERM, Génétique Médicale et Génomique Fonctionnelle (GMGF), UMRS 910, Marseille, France.</nlm:affiliation></affiliation></author><author><name sortKey="Javed, Asif" sort="Javed, Asif" uniqKey="Javed A" first="Asif" last="Javed">Asif Javed</name><affiliation><nlm:affiliation>Cancer Therapeutics and Stratified Oncology, Genome Institute of Singapore, A*STAR, Singapore.</nlm:affiliation></affiliation></author><author><name sortKey="Blewitt, Marnie E" sort="Blewitt, Marnie E" uniqKey="Blewitt M" first="Marnie E" last="Blewitt">Marnie E. Blewitt</name><affiliation><nlm:affiliation>Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Amiel, Jeanne" sort="Amiel, Jeanne" uniqKey="Amiel J" first="Jeanne" last="Amiel">Jeanne Amiel</name><affiliation><nlm:affiliation>Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Wollnik, Bernd" sort="Wollnik, Bernd" uniqKey="Wollnik B" first="Bernd" last="Wollnik">Bernd Wollnik</name><affiliation><nlm:affiliation>Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Reversade, Bruno" sort="Reversade, Bruno" uniqKey="Reversade B" first="Bruno" last="Reversade">Bruno Reversade</name><affiliation><nlm:affiliation>Human Genetics and Embryology Laboratory, Institute of Medical Biology, A*STAR, Singapore.</nlm:affiliation></affiliation></author></analytic><series><title level="j">Nature genetics</title><idno type="eISSN">1546-1718</idno><imprint><date when="2017" type="published">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Animals</term><term>Cell Line</term><term>Child, Preschool</term><term>Choanal Atresia (genetics)</term><term>Chromosomal Proteins, Non-Histone (genetics)</term><term>Epigenesis, Genetic (genetics)</term><term>Female</term><term>Genetic Predisposition to Disease (genetics)</term><term>Humans</term><term>Male</term><term>Mice</term><term>Mice, Inbred C57BL</term><term>Microphthalmos (genetics)</term><term>Muscular Dystrophy, Facioscapulohumeral (genetics)</term><term>Mutation, Missense (genetics)</term><term>Nose (abnormalities)</term><term>Xenopus laevis (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Chromosomal Proteins, Non-Histone</term></keywords><keywords scheme="MESH" qualifier="abnormalities" xml:lang="en"><term>Nose</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Choanal Atresia</term><term>Epigenesis, Genetic</term><term>Genetic Predisposition to Disease</term><term>Microphthalmos</term><term>Muscular Dystrophy, Facioscapulohumeral</term><term>Mutation, Missense</term><term>Xenopus laevis</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Animals</term><term>Cell Line</term><term>Child, Preschool</term><term>Female</term><term>Humans</term><term>Male</term><term>Mice</term><term>Mice, Inbred C57BL</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete absence of the nose with or without ocular defects. We report here that missense mutations in the epigenetic regulator SMCHD1 mapping to the extended ATPase domain of the encoded protein cause BAMS in all 14 cases studied. All mutations were de novo where parental DNA was available. Biochemical tests and in vivo assays in Xenopus laevis embryos suggest that these mutations may behave as gain-of-function alleles. This finding is in contrast to the loss-of-function mutations in SMCHD1 that have been associated with facioscapulohumeral muscular dystrophy (FSHD) type 2. Our results establish SMCHD1 as a key player in nasal development and provide biochemical insight into its enzymatic function that may be exploited for development of therapeutics for FSHD.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">28067911</PMID><DateCreated><Year>2017</Year><Month>01</Month><Day>09</Day></DateCreated><DateCompleted><Year>2017</Year><Month>09</Month><Day>05</Day></DateCompleted><DateRevised><Year>2017</Year><Month>09</Month><Day>06</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1546-1718</ISSN><JournalIssue CitedMedium="Internet"><Volume>49</Volume><Issue>2</Issue><PubDate><Year>2017</Year><Month>Feb</Month></PubDate></JournalIssue><Title>Nature genetics</Title><ISOAbbreviation>Nat. Genet.</ISOAbbreviation></Journal><ArticleTitle>De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.</ArticleTitle><Pagination><MedlinePgn>249-255</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1038/ng.3765</ELocationID><Abstract><AbstractText>Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete absence of the nose with or without ocular defects. We report here that missense mutations in the epigenetic regulator SMCHD1 mapping to the extended ATPase domain of the encoded protein cause BAMS in all 14 cases studied. All mutations were de novo where parental DNA was available. Biochemical tests and in vivo assays in Xenopus laevis embryos suggest that these mutations may behave as gain-of-function alleles. This finding is in contrast to the loss-of-function mutations in SMCHD1 that have been associated with facioscapulohumeral muscular dystrophy (FSHD) type 2. Our results establish SMCHD1 as a key player in nasal development and provide biochemical insight into its enzymatic function that may be exploited for development of therapeutics for FSHD.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Gordon</LastName><ForeName>Christopher T</ForeName><Initials>CT</Initials><Identifier Source="ORCID">http://orcid.org/0000-0002-9300-8399</Identifier><AffiliationInfo><Affiliation>Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, Paris, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Paris Descartes, Sorbonne Paris Cité Université, Institut Imagine, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Xue</LastName><ForeName>Shifeng</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Human Genetics and Embryology Laboratory, Institute of Medical Biology, A*STAR, Singapore.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Institute of Molecular and Cell Biology, A*STAR, Singapore.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Yigit</LastName><ForeName>Gökhan</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Filali</LastName><ForeName>Hicham</ForeName><Initials>H</Initials><AffiliationInfo><Affiliation>Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, Paris, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Paris Descartes, Sorbonne Paris Cité Université, Institut Imagine, Paris, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Mohammed V University, Rabat, Morocco.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Chen</LastName><ForeName>Kelan</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Department of Medical Biology, University of Melbourne, Melbourne, Victoria, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Rosin</LastName><ForeName>Nadine</ForeName><Initials>N</Initials><AffiliationInfo><Affiliation>Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Yoshiura</LastName><ForeName>Koh-Ichiro</ForeName><Initials>KI</Initials><AffiliationInfo><Affiliation>Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Oufadem</LastName><ForeName>Myriam</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, Paris, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Paris Descartes, Sorbonne Paris Cité Université, Institut Imagine, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Beck</LastName><ForeName>Tamara J</ForeName><Initials>TJ</Initials><AffiliationInfo><Affiliation>Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>McGowan</LastName><ForeName>Ruth</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Magee</LastName><ForeName>Alex C</ForeName><Initials>AC</Initials><AffiliationInfo><Affiliation>Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Altmüller</LastName><ForeName>Janine</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Institute of Human Genetics, University of Cologne, Cologne, Germany.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Dion</LastName><ForeName>Camille</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Aix Marseille Université, INSERM, Génétique Médicale et Génomique Fonctionnelle (GMGF), UMRS 910, Marseille, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Thiele</LastName><ForeName>Holger</ForeName><Initials>H</Initials><AffiliationInfo><Affiliation>Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Gurzau</LastName><ForeName>Alexandra D</ForeName><Initials>AD</Initials><AffiliationInfo><Affiliation>Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Department of Medical Biology, University of Melbourne, Melbourne, Victoria, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Nürnberg</LastName><ForeName>Peter</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Meschede</LastName><ForeName>Dieter</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Praxis für Humangenetik, Cologne, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mühlbauer</LastName><ForeName>Wolfgang</ForeName><Initials>W</Initials><AffiliationInfo><Affiliation>Plastische und Ästhetische Chirurgie, ATOS Klinik München, Munich, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Okamoto</LastName><ForeName>Nobuhiko</ForeName><Initials>N</Initials><AffiliationInfo><Affiliation>Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Osaka, Japan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Varghese</LastName><ForeName>Vinod</ForeName><Initials>V</Initials><AffiliationInfo><Affiliation>Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Irving</LastName><ForeName>Rachel</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Sigaudy</LastName><ForeName>Sabine</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Département de Génétique Médicale, Hôpital Timone Enfant, Assistance Publique-Hôpitaux de Marseille, Marseille, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Williams</LastName><ForeName>Denise</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ahmed</LastName><ForeName>S Faisal</ForeName><Initials>SF</Initials><Identifier Source="ORCID">http://orcid.org/0000-0003-0689-5549</Identifier><AffiliationInfo><Affiliation>Developmental Endocrinology Research Group, University of Glasgow, RHC, Glasgow, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bonnard</LastName><ForeName>Carine</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Human Genetics and Embryology Laboratory, Institute of Medical Biology, A*STAR, Singapore.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kong</LastName><ForeName>Mung Kei</ForeName><Initials>MK</Initials><AffiliationInfo><Affiliation>Human Genetics and Embryology Laboratory, Institute of Medical Biology, A*STAR, Singapore.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ratbi</LastName><ForeName>Ilham</ForeName><Initials>I</Initials><AffiliationInfo><Affiliation>Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Mohammed V University, Rabat, Morocco.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Fejjal</LastName><ForeName>Nawfal</ForeName><Initials>N</Initials><AffiliationInfo><Affiliation>Service de Chirurgie Plastique Pédiatrique, Hôpital d'Enfants, CHU Ibn Sina, Mohammed V University, Rabat, Morocco.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Fikri</LastName><ForeName>Meriem</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Service de Neuroradiologie, Hôpital des Spécialités, CHU Ibn Sina, Mohammed V University, Rabat, Morocco.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Elalaoui</LastName><ForeName>Siham Chafai</ForeName><Initials>SC</Initials><AffiliationInfo><Affiliation>Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Mohammed V University, Rabat, Morocco.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Département de Génétique Médical, Institut National d'Hygiène, Rabat, Morocco.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Reigstad</LastName><ForeName>Hallvard</ForeName><Initials>H</Initials><AffiliationInfo><Affiliation>Neonatal Intensive Care Unit, Children's Department, Haukeland University Hospital, Bergen, Norway.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bole-Feysot</LastName><ForeName>Christine</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Paris Descartes, Sorbonne Paris Cité Université, Institut Imagine, Paris, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Genomic Platform, INSERM UMR 1163, Institut Imagine, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Nitschké</LastName><ForeName>Patrick</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Paris Descartes, Sorbonne Paris Cité Université, Institut Imagine, Paris, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Bioinformatic Platform, INSERM UMR 1163, Institut Imagine, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ragge</LastName><ForeName>Nicola</ForeName><Initials>N</Initials><AffiliationInfo><Affiliation>West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham, UK.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lévy</LastName><ForeName>Nicolas</ForeName><Initials>N</Initials><AffiliationInfo><Affiliation>Aix Marseille Université, INSERM, Génétique Médicale et Génomique Fonctionnelle (GMGF), UMRS 910, Marseille, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Département de Génétique Médicale, Hôpital Timone Enfant, Assistance Publique-Hôpitaux de Marseille, Marseille, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Tunçbilek</LastName><ForeName>Gökhan</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>Department of Plastic, Reconstructive and Aesthetic Surgery, Hacettepe University Faculty of Medicine, Ankara, Turkey.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Teo</LastName><ForeName>Audrey S M</ForeName><Initials>AS</Initials><AffiliationInfo><Affiliation>Cancer Therapeutics and Stratified Oncology, Genome Institute of Singapore, A*STAR, Singapore.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Cunningham</LastName><ForeName>Michael L</ForeName><Initials>ML</Initials><AffiliationInfo><Affiliation>University of Washington Department of Pediatrics, Division of Craniofacial Medicine and Seattle Children's Hospital Craniofacial Center, Seattle, Washington, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Sefiani</LastName><ForeName>Abdelaziz</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Mohammed V University, Rabat, Morocco.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Département de Génétique Médical, Institut National d'Hygiène, Rabat, Morocco.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kayserili</LastName><ForeName>Hülya</ForeName><Initials>H</Initials><AffiliationInfo><Affiliation>Department of Medical Genetics, Koç University, School of Medicine (KUSoM), Istanbul, Turkey.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Murphy</LastName><ForeName>James M</ForeName><Initials>JM</Initials><AffiliationInfo><Affiliation>Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Department of Medical Biology, University of Melbourne, Melbourne, Victoria, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Chatdokmaiprai</LastName><ForeName>Chalermpong</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Plastic and Maxillofacial Surgery, Department of Surgery, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hillmer</LastName><ForeName>Axel M</ForeName><Initials>AM</Initials><Identifier Source="ORCID">http://orcid.org/0000-0002-3381-7266</Identifier><AffiliationInfo><Affiliation>Cancer Therapeutics and Stratified Oncology, Genome Institute of Singapore, A*STAR, Singapore.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Wattanasirichaigoon</LastName><ForeName>Duangrurdee</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lyonnet</LastName><ForeName>Stanislas</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, Paris, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Paris Descartes, Sorbonne Paris Cité Université, Institut Imagine, Paris, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Magdinier</LastName><ForeName>Frédérique</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>Aix Marseille Université, INSERM, Génétique Médicale et Génomique Fonctionnelle (GMGF), UMRS 910, Marseille, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Javed</LastName><ForeName>Asif</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Cancer Therapeutics and Stratified Oncology, Genome Institute of Singapore, A*STAR, Singapore.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Blewitt</LastName><ForeName>Marnie E</ForeName><Initials>ME</Initials><Identifier Source="ORCID">http://orcid.org/0000-0002-2984-1474</Identifier><AffiliationInfo><Affiliation>Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Department of Medical Biology, University of Melbourne, Melbourne, Victoria, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Amiel</LastName><ForeName>Jeanne</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, Paris, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Paris Descartes, Sorbonne Paris Cité Université, Institut Imagine, Paris, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Wollnik</LastName><ForeName>Bernd</ForeName><Initials>B</Initials><AffiliationInfo><Affiliation>Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Institute of Human Genetics, University of Cologne, Cologne, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Reversade</LastName><ForeName>Bruno</ForeName><Initials>B</Initials><Identifier Source="ORCID">http://orcid.org/0000-0002-4070-7997</Identifier><AffiliationInfo><Affiliation>Human Genetics and Embryology Laboratory, Institute of Medical Biology, A*STAR, Singapore.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Institute of Molecular and Cell Biology, A*STAR, Singapore.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Department of Medical Genetics, Koç University, School of Medicine (KUSoM), Istanbul, Turkey.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Department of Paediatrics, School of Medicine, National University of Singapore, Singapore.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Amsterdam Reproduction and Development, Academic Medical Centre and VU University Medical Center, Amsterdam, the Netherlands.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2017</Year><Month>01</Month><Day>09</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Nat Genet</MedlineTA><NlmUniqueID>9216904</NlmUniqueID><ISSNLinking>1061-4036</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D002868">Chromosomal Proteins, Non-Histone</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C578241">SMCHD1 protein, human</NameOfSubstance></Chemical></ChemicalList><SupplMeshList><SupplMeshName Type="Disease" UI="C537429">Arhinia, choanal atresia, and microphthalmia</SupplMeshName></SupplMeshList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000818" MajorTopicYN="N">Animals</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002460" MajorTopicYN="N">Cell Line</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002675" MajorTopicYN="N">Child, Preschool</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002754" MajorTopicYN="N">Choanal Atresia</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D002868" MajorTopicYN="N">Chromosomal Proteins, Non-Histone</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D044127" MajorTopicYN="N">Epigenesis, Genetic</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D020022" MajorTopicYN="N">Genetic Predisposition to Disease</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D051379" MajorTopicYN="N">Mice</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008810" MajorTopicYN="N">Mice, Inbred C57BL</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008850" MajorTopicYN="N">Microphthalmos</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D020391" MajorTopicYN="N">Muscular Dystrophy, Facioscapulohumeral</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D020125" MajorTopicYN="N">Mutation, Missense</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D009666" MajorTopicYN="N">Nose</DescriptorName><QualifierName UI="Q000002" MajorTopicYN="Y">abnormalities</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D014982" MajorTopicYN="N">Xenopus laevis</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2016</Year><Month>05</Month><Day>18</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2016</Year><Month>12</Month><Day>13</Day></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2017</Year><Month>1</Month><Day>10</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2017</Year><Month>9</Month><Day>7</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2017</Year><Month>1</Month><Day>10</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">28067911</ArticleId><ArticleId IdType="pii">ng.3765</ArticleId><ArticleId IdType="doi">10.1038/ng.3765</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Asie/explor/AustralieFrV1/Data/PubMed/Corpus
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001090 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/PubMed/Corpus/biblio.hfd -nk 001090 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Asie
|area= AustralieFrV1
|flux= PubMed
|étape= Corpus
|type= RBID
|clé= pubmed:28067911
|texte= De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/PubMed/Corpus/RBID.i -Sk "pubmed:28067911" \
| HfdSelect -Kh $EXPLOR_AREA/Data/PubMed/Corpus/biblio.hfd \
| NlmPubMed2Wicri -a AustralieFrV1
| This area was generated with Dilib version V0.6.33. |  |